RESUMO
In human, the CYP (cytochrome P450) superfamily comprises 57 genes arranged in 18 families and 42 subfamiles. These genes encode for enzymes involved in the metabolism of drugs, foreign chemicals, fatty acids, eicosanoids and cholesterol. Additionally, they play roles in bile acid biosynthesis, steroid synthesis and metabolism, and vitamin D(3) synthesis and metabolism. Mutations in many CYP genes cause inborn errors of metabolism and contribute to increased risk of cancer. MS provides a convenient method for the identification and quantification of CYP enzymes, and in the present paper we will review the current state of the technology for such an analysis.
Assuntos
Sistema Enzimático do Citocromo P-450/química , Sistema Enzimático do Citocromo P-450/genética , Sequência de Aminoácidos , Hidrocarboneto de Aril Hidroxilases/química , Hidrocarboneto de Aril Hidroxilases/genética , Citocromo P-450 CYP2A6 , Espectrometria de Massas , Oxigenases de Função Mista/química , Oxigenases de Função Mista/genética , Dados de Sequência Molecular , Proteômica/instrumentação , Proteômica/métodos , Proteínas Recombinantes/química , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por MatrizRESUMO
Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis, uncommon childhood diseases of unknown cause, occurred in three children (two brothers and a female cousin). Their parents are consanguineous, and the clinical course of their illness was similar. The two brothers also had Sweet syndrome. The association of Sweet syndrome with chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia in this family suggests that these rare conditions may be interrelated.
Assuntos
Anemia Diseritropoética Congênita/genética , Anemia Hemolítica Congênita/genética , Osteomielite/genética , Dermatopatias/genética , Doença Crônica , Febre , Humanos , Lactente , Leucocitose/complicações , Masculino , Neutrófilos , Linhagem , Recidiva , Dermatopatias/patologia , SíndromeRESUMO
A case of false positive I-131 MIBG imaging for detection of pheochromocytoma is presented. There was an area of increased tracer uptake in the left renal region that showed steadily reducing activity over a period of three days. This raised the suspicion of a dilated renal pelvis, which was later confirmed by Tc-99m DTPA imaging. It is advisable in cases of ambiguous I-131 MIBG imaging to use Tc-99m DTPA rather than Tc-99m DMSA for localizing the kidneys and renal pelvis.
